PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Morgan, Neil; Westaway, Shawn; Morton, Jenny; Gregory, Allison; Gissen, Paul; Sonek, Scott; Cangul, Hakan; Coryell, Jason; Canham, Natalie; Nardocci, Nardo; Zorzi, Giovanna; Pasha, Shanaz; Rodriguez, Diana; Desguerre, Isabelle; Mubaidin, Amar; Bertini, Enrico; Trembath, Richard; Simonati, Alessandro; Schanen, Carolyn; Johnson, Colin; Levinson, Barbara; Woods, C.; Wilmot, Beth; Kramer, Patricia; Gitschier, Jane; Maher, Eamonn; Hayflick, Susan

doi:10.1038/ng1826

PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

Morgan N. V., Westaway S. K., Morton J. E. V., Gregory A., Gissen P., Sonek S., ...Daha Fazla

NATURE GENETICS, cilt.38, sa.7, ss.752-754, 2006 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 38 Sayı: 7
Basım Tarihi: 2006
Doi Numarası: 10.1038/ng1826
Dergi Adı: NATURE GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.752-754
Bursa Uludağ Üniversitesi Adresli: Hayır

Özet

Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy ( INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A(2), in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.